NCT00246857

Brief Summary

This study will determine the biochemical and genetic causes of inherited immune diseases affecting lymphocyte homeostasis. Lymphocytes are a type of white blood cell that fights infections. Normally, the body keeps a precise balance in which lymphocyte growth is matched by lymphocyte death. People with constantly enlarged lymph nodes or spleen, along with autoimmune disease, immunodeficiency, lymphoma, or other immune problems affecting lymphocytes may have an abnormality of the immune system in the cell growth and cell death processes that regulate lymphocyte homeostasis. Patients who have, or are suspected of having, an inherited lymphocyte homeostasis or programmed cell death susceptibility syndrome may be eligible for this study. Relatives of patients are also included. Participants' (patients and relatives) medical records are reviewed and blood samples are drawn for studies to identify genes involved in immune disorders. Tissues that have been removed from patients for medical reasons, such as biopsied tissues, may be examined for tissue and DNA studies. Relatives are studied to determine if some of them may have a very mild form of lymphocyte homeostasis disorder. Patients who have an immune problem that the researchers wish to study further will be invited to donate additional blood samples at irregular intervals (at least once a year) and to provide an update of their medical records at the same time. ...

Trial Health

80
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
5,000

participants targeted

Target at P75+ for all trials

Geographic Reach
2 countries

7 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

October 29, 2005

Completed
2 days until next milestone

First Posted

Study publicly available on registry

October 31, 2005

Completed
1.3 years until next milestone

Study Start

First participant enrolled

February 12, 2007

Completed
Last Updated

May 1, 2026

Status Verified

March 3, 2026

First QC Date

October 29, 2005

Last Update Submit

April 30, 2026

Conditions

Primary Immune Deficiency

Keywords

ApoptosisT-cellAutoimmunityLymphoproliferationB-CellInherited Lymphhocyte HomeostasisGenetic Disease

Outcome Measures

Primary Outcomes (1)

  • determination of underlying susceptibility trait(s) and elucidation of its mechanism of action

    Goal of this study is to determine the molecular, genetic, biochemical basis for an immune problem.

    2030

Study Arms (1)

patients referred by physician with a suspected inherited immune deficiency

patients referred by physician with a suspected inherited immune deficiency

Eligibility Criteria

Age1 Month - 100 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients referred by physician with a suspected inherited immune deficiency and their unaffected relatives.

You may qualify if:

  • Patients known to have or suspected of having an inherited immune cell homeostasis, programmed cell death susceptibility syndrome, lymphocyte developmental block, or defective immune cell effector functions will be eligible for enrollment. We will enroll
  • patients with suspected disease if the investigator agrees that there is a high index of suspicion. Blood relatives of enrolled patients will be eligible for enrollment. There will be no limit as to age, sex, race, or disability.

You may not qualify if:

  • Severely debilitated health status or poor venous access may preclude obtaining adequate specimens for analysis. The minimum weight for infants on this protocol is 3 kg because of the limits of maximal acceptable blood draw volumes and minimum requirement for core laboratory tests would exceed the acceptable volume.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (7)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

University of Michigan

Ann Arbor, Michigan, 48109-0624, United States

RECRUITING

Ankara Medical University

Ankara, Turkey (Türkiye)

RECRUITING

Gazi University

Ankara, Turkey (Türkiye)

RECRUITING

Hacettepe University

Ankara, Turkey (Türkiye)

RECRUITING

Marmara University

Istanbul, Turkey (Türkiye)

RECRUITING

Necemttin Erbakan University

Konya, Turkey (Türkiye)

RECRUITING

Related Publications (4)

  • Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R, Husami A, Kissell D, Nortman S, Chaturvedi V, Haines H, Young LR, Mo J, Filipovich AH, Bleesing JJ, Mustillo P, Stephens M, Rueda CM, Chougnet CA, Hoebe K, McElwee J, Hughes JD, Karakoc-Aydiner E, Matthews HF, Price S, Su HC, Rao VK, Lenardo MJ, Jordan MB. AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 2015 Jul 24;349(6246):436-40. doi: 10.1126/science.aaa1663.

    PMID: 26206937BACKGROUND

  • Afzali B, Gronholm J, Vandrovcova J, O'Brien C, Sun HW, Vanderleyden I, Davis FP, Khoder A, Zhang Y, Hegazy AN, Villarino AV, Palmer IW, Kaufman J, Watts NR, Kazemian M, Kamenyeva O, Keith J, Sayed A, Kasperaviciute D, Mueller M, Hughes JD, Fuss IJ, Sadiyah MF, Montgomery-Recht K, McElwee J, Restifo NP, Strober W, Linterman MA, Wingfield PT, Uhlig HH, Roychoudhuri R, Aitman TJ, Kelleher P, Lenardo MJ, O'Shea JJ, Cooper N, Laurence ADJ. BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. Nat Immunol. 2017 Jul;18(7):813-823. doi: 10.1038/ni.3753. Epub 2017 May 22.

    PMID: 28530713BACKGROUND

  • Ozen A, Comrie WA, Ardy RC, Dominguez Conde C, Dalgic B, Beser OF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ. CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. N Engl J Med. 2017 Jul 6;377(1):52-61. doi: 10.1056/NEJMoa1615887. Epub 2017 Jun 28.

    PMID: 28657829BACKGROUND

  • Comrie WA, Faruqi AJ, Price S, Zhang Y, Rao VK, Su HC, Lenardo MJ. RELA haploinsufficiency in CD4 lymphoproliferative disease with autoimmune cytopenias. J Allergy Clin Immunol. 2018 Apr;141(4):1507-1510.e8. doi: 10.1016/j.jaci.2017.11.036. Epub 2018 Jan 2. No abstract available.

    PMID: 29305315DERIVED

Related Links

MeSH Terms

Conditions

Primary Immunodeficiency DiseasesAutoimmune DiseasesGenetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesImmunologic Deficiency SyndromesImmune System Diseases

Study Officials

  • Helen C Su, M.D.

    National Institute of Allergy and Infectious Diseases (NIAID)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Helen C Su, M.D.

CONTACT

(301) 451-8783hsu@mail.nih.gov

Study Design

Study Type
observational
Observational Model
OTHER
Time Perspective
PROSPECTIVE
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 29, 2005

First Posted

October 31, 2005

Study Start

February 12, 2007

Last Updated

May 1, 2026

Record last verified: 2026-03-03

Data Sharing

IPD Sharing
Will not share

If an individual requests to have their raw sequencing data, we have asked the IRB for permission. This has happened in one case. @@@@@@@@@@@@In another case during this reporting period, a subject asked us to share raw sequencing data with an academic center for analysis. This required a DTA which was recently completed.@@@@@@@@@@@@Sequencing is done under research conditions and is not shared with a subject unless it is verified with a repeat independent sample and CLIA certified.

Locations

TU(5)US(2)